Mild variant of argininosuccinic aciduria.
A 7 and one half-year-old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes. The patient was put on a low protein diet with arginine supplementation and improved clinically and biochemically on this regime. The variability of the phenotypic expression of argininosuccinate lyase deficiency is stressed.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000652:urine; D001120:Arginine / Q000031:analogs & derivatives*; D001123:Argininosuccinate Lyase / Q000378:metabolism*; D001125:Argininosuccinic Acid / Q000652:urine*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D014644:Genetic Variation; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008190:Lyases / Q000378:metabolism*; D008297:Male
D001125:Argininosuccinic Acid; D001120:Arginine; D008190:Lyases; D001123:Argininosuccinate Lyase